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2013, Número 1

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Revista del Hospital Psiquiátrico de La Habana 2013; 10 (1)


Epigenética y trastornos del espectro autista

Quintana HD, Lantigua CPA

Idioma: Español
Referencias bibliográficas: 55
Paginas:
Archivo PDF: 124.22 Kb.


RESUMEN

Introducción: los trastornos del espectro autista comprenden un grupo complejo de desórdenes del desarrollo que tienen básicamente un origen genético, caracterizados por deterioro en las áreas de interacción social, comunicación y comportamiento estereotipado y repetitivo. En su patogenia se han involucrado mecanismos epigenéticos como consecuencia de la ocurrencia de dichos trastornos en pacientes con desórdenes donde se han comprobado mutaciones epigenéticas o en otros en que se han implicado factores reguladores epigenéticos.
Objetivo: evidenciar el rol que representan los mecanismos epigenéticos en la susceptibilidad a los trastornos del espectro autista.
Métodos: se realizó la búsqueda en PubMed/MEDLINE en publicaciones de los últimos 10 años, utilizándose solamente aquellas con texto completo e información novedosa sobre el tema.
Desarrollo: los estudios del genoma revelan un posible ligamiento en diferentes loci de numerosos cromosomas. La mayoría de las alteraciones recurrentes desde el punto de vista citogenético en los trastornos del espectro autista implican duplicaciones del locus 15q11–13 materno y deleciones del 7q, regiones estas donde existen evidencias de impronta genómica que sugieren un origen epigenético para dichos trastornos, lo que también ha sido descrito en otras enfermedades de origen genético en el cromosoma X. Se presenta una actualización que evidencia la importancia de la epigenética en la génesis de los trastornos del espectro autista.
Conclusiones: a pesar de los recientes avances en la identificación de genes candidatos de susceptibilidad al autismo, la base neurológica subyacente es aún desconocida, donde los hallazgos epigenéticos en regiones críticas del genoma van encaminando el futuro.


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